HEMK1 (HemK methyltransferase family member 1)

2014-11-01  

Identity

HGNC
HEMK1
LOCATION
3p21.31
LOCUSID
51409
ALIAS
HEMK,MPRMC,MTQ1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51409
MIM: 618609
HGNC: 24923
Ensembl: ENSG00000114735

Variants:

dbSNP: 51409
ClinVar: 51409
TCGA: ENSG00000114735
COSMIC: HEMK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114735ENST00000232854Q9Y5R4
ENSG00000114735ENST00000232854A0A140VK98
ENSG00000114735ENST00000424388F2Z2F0
ENSG00000114735ENST00000434410Q9Y5R4
ENSG00000114735ENST00000434410A0A140VK98
ENSG00000114735ENST00000443894H7C258
ENSG00000114735ENST00000448997F2Z2F0
ENSG00000114735ENST00000455834Q9Y5R4
ENSG00000114735ENST00000455834A0A140VK98

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
352607562022Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors.1
352607562022Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors.1
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
185411452008The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC.13
185411452008The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC.13

Citation

Dessen P

HEMK1 (HemK methyltransferase family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64235